PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report

por Maggio, Maria Cristina, Ceccherini, Isabella, Grossi, Alice, Gattorno, Marco, Corsello, Giovanni
Publicado 2019

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation

por Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Publicado 2021

Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation

por Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Publicado 2022

P791: WHOLE EXOME SEQUENCING IN ADULT PATIENTS WITH CHRONIC IDIOPATHIC NEUTROPENIA

por Grossi, Alice, Tsaknakis, Grigorios, Rusmini, Marta, Ceccherini, Isabella, Uva, Paolo, Miano, Maurizio, Mavroudi, Irene, Boutakoglou, Erasmia, Dufour, Carlo, Fioredda, Francesca, Papadaki, Helen
Publicado 2023

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine dea...

por Drago, Enrico, Garbarino, Francesca, Signa, Sara, Grossi, Alice, Schena, Francesca, Penco, Federica, Santori, Elettra, Candotti, Fabio, Boztug, Kaan, Volpi, Stefano, Gattorno, Marco, Caorsi, Roberta
Publicado 2022

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

por Ciammola, Andrea, Sangalli, Davide, Sassone, Jenny, Poletti, Barbara, Carelli, Laura, Banfi, Paolo, Pappacoda, Gabriele, Ceccherini, Isabella, Grossi, Alice, Maderna, Luca, Pingue, Monica, Girotti, Floriano, Silani, Vincenzo
Publicado 2019

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

por Lantieri, Francesca, Gimelli, Stefania, Viaggi, Chiara, Stathaki, Elissavet, Malacarne, Michela, Santamaria, Giuseppe, Grossi, Alice, Mosconi, Manuela, Sloan-Béna, Frédérique, Prato, Alessio Pini, Coviello, Domenico, Ceccherini, Isabella
Publicado 2019

Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases

por Marzano, Angelo V., Ceccherini, Isabella, Gattorno, Marco, Fanoni, Daniele, Caroli, Francesco, Rusmini, Marta, Grossi, Alice, De Simone, Clara, Borghi, Orietta M., Meroni, Pier Luigi, Crosti, Carlo, Cugno, Massimo
Publicado 2014

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

por Mendonça, Leonardo Oliveira, Grossi, Alice, Caroli, Francesco, de Oliveira, Robson Aguiar, Kalil, Jorge, Castro, Fabio Fernandes Morato, Pontillo, Alessandra, Ceccherini, Isabella, Barros, Myrthes Anna Maragna Toledo, Gattorno, Marco
Publicado 2020

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

por Grossi, Alice, Miano, Maurizio, Lanciotti, Marina, Fioredda, Francesca, Guardo, Daniela, Palmisani, Elena, Terranova, Paola, Santamaria, Giuseppe, Caroli, Francesco, Caorsi, Roberta, Volpi, Stefano, Gattorno, Marco, Dufour, Carlo, Ceccherini, Isabella
Publicado 2021

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

por Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell’Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo
Publicado 2022

Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant

por Chianucci, Benedetta, Grossi, Alice, Dell’Orso, Gianluca, Palmisani, Elena, Lanciotti, Marina, Terranova, Paola, Pierri, Filomena, Lupia, Michela, Arcuri, Luca, Laurino, Marica, Ceccherini, Isabella, Beier, Fabian, Dufour, Carlo, Fioredda, Francesca, Miano, Maurizio
Publicado 2022

PB2052: THE HEMATOLOGICAL SIDE OF TNFRSF13B/TACI: A MONOCENTRIC EXPERIENCE

por Beccaria, Andrea, Lanciotti, Marina, Giarratana, Maria Carla, Palmisani, Elena, Ceccherini, Isabella, Grossi, Alice, Caorsi, Roberta, Gattorno, Marco, Terranova, Paola, Lupia, Michela, Coviello, Domenico, Maffei, Massimo, Zanardi, Sabrina, Miano, Maurizio, Dufour, Carlo, Fioredda, Francesca
Publicado 2023

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever

por Caorsi, Roberta, Rusmini, Marta, Volpi, Stefano, Chiesa, Sabrina, Pastorino, Claudia, Sementa, Angela Rita, Uva, Paolo, Grossi, Alice, Lanino, Edoardo, Faraci, Maura, Minoia, Francesca, Signa, Sara, Picco, Paolo, Martini, Alberto, Ceccherini, Isabella, Gattorno, Marco
Publicado 2018

Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure

por Dell’Orso, Gianluca, Grossi, Alice, Penco, Federica, Caorsi, Roberta, Palmisani, Elena, Terranova, Paola, Schena, Francesca, Lupia, Michela, Ricci, Erica, Montalto, Shana, Pierri, Filomena, Ceccherini, Isabella, Fioredda, Francesca, Dufour, Carlo, Gattorno, Marco, Miano, Maurizio
Publicado 2021

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report

por Del Borrello, Giovanni, Miano, Maurizio, Micalizzi, Concetta, Lupia, Michela, Ceccherini, Isabella, Grossi, Alice, Cavalli, Andrea, Gustincich, Stefano, Rusmini, Marta, Faraci, Maura, Dell’Orso, Gianluca, Ramenghi, Ugo, Mesini, Alessio, Ricci, Erica, Schiavone, Maurizio, Di Iorgi, Natascia, Dufour, Carlo
Publicado 2022

P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE

por Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell’orso, Gianluca, Regis, Stefano, Fioredda, Francesca, Lupia, Michela, Lanciotti, Marina, Palmisani, Elena, Carla Giarratana, Maria, Arcuri, Luca, Corsolini, Fabio, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Ceccherini, Isabella, Ravera, Silvia, Cappelli, Enrico, Dufour, Carlo
Publicado 2023

Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The “Fil Rouge” of Treg Between IPEX Features and Other Clinical Entities?

por Gentile, Micaela, Miano, Maurizio, Terranova, Paola, Giardino, Stefano, Faraci, Maura, Pierri, Filomena, Drago, Enrico, Verzola, Daniela, Ghiggeri, Gianmarco, Verrina, Enrico, Angeletti, Andrea, Cafferata, Barbara, Grossi, Alice, Ceccherini, Isabella, Caridi, Gianluca, Lugani, Francesca, Nescis, Lorenzo, Fiaccadori, Enrico, Lanino, Luca, Fenoglio, Daniela, La Porta, Edoardo
Publicado 2022

Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus

por Steiner, Annemarie, Reygaerts, Thomas, Pontillo, Alessandra, Ceccherini, Isabella, Moecking, Jonas, Moghaddas, Fiona, Davidson, Sophia, Caroli, Francesco, Grossi, Alice, Castro, Fabio Fernandes Morato, Kalil, Jorge, Gohr, Florian N., Schmidt, Florian I., Bartok, Eva, Zillinger, Thomas, Hartmann, Gunther, Geyer, Matthias, Gattorno, Marco, Mendonça, Leonardo Oliveira, Masters, Seth L.
Publicado 2021

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

por Palmisani, Elena, Miano, Maurizio, Grossi, Alice, Lanciotti, Marina, Lupia, Michela, Terranova, Paola, Ceccherini, Isabella, Montanari, Eugenia, Calvillo, Michaela, Pierri, Filomena, Micalizzi, Concetta, Maggiore, Rosario, Guardo, Daniela, Zanardi, Sabrina, Facchini, Elena, Maggio, Angela, Mastrodicasa, Elena, Corti, Paola, Russo, Giovanna, Pillon, Marta, Farruggia, Piero, Cesaro, Simone, Barone, Angelica, Tosetti, Francesca, Ramenghi, Ugo, Crescenzio, Nicoletta, Bleesing, Jack, Dufour, Carlo, Fioredda, Francesca
Publicado 2023